Objective: To identify the abnormalities of alpha-globin gene organization.
Methods: Complementary DNAs to the sequences of the up-stream of alpha2-globin gene and the down-stream of alphal globin gene, respectively were designed as long PCR primers, DNA from 7 individuals with normal or abnormal alpha-globin gene organizations were analyzed by long PCR procedure.
Results: The normal alpha-globin gene organization (alphaalpha) was identified to have a 6.4kb amplified fragment. The rightward type of alpha-globin gene deletion (alpha(-3.7)) resulted in a 2.6kb amplified fragment; the Southeast Asia type of alpha-globin gene deletion (- - SEA) had no amplified fragment and alpha-globin gene triplication (alphaalphaalpha(anti3.7)) showed a 10.2kb amplified fragment.
Conclusion: Long PCR provides a new method for the rapid detection of the abnormalities of alpha-globin gene organization.